​What is Tay-Sachs?

Tay-Sachs is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme (known as Hex-A) necessary for fat metabolism in nerve cells. Without this enzyme, central nervous system degeneration ensues. The disease is named for a British ophthalmologist, Warren Tay, who first described the disease, in 1881, and a New York neurologist, Bernard Sachs, who first described the cellular changes and the genetic nature of the disease, in 1887.

In infants, Tay-Sachs is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death, usually between ages two and five. Late-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows for some production of the missing enzyme. There is currently no treatment for Tay-Sachs Disease.